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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTNND1
catenin delta 1
Chromosome 11 Β· 11q12.1
NCBI Gene: 1500Ensembl: ENSG00000198561.17HGNC: HGNC:2515UniProt: O60716
459PubMed Papers
21Diseases
0Drugs
37Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signaling receptor bindingprotein bindingphosphatase inhibitor activityphosphatase bindingBlepharo-cheilo-odontic syndromelisteriosiscleft lipFamilial exudative vitreoretinopathy
✦AI Summary

CTNND1 (p120-catenin) is a critical regulator of cell-cell adhesion that stabilizes cadherins at the cell surface and modulates their adhesive properties 1. Beyond its role in adherens junction maintenance, CTNND1 participates in Wnt signaling activation and regulates trophoblast proliferation and specification during embryo implantation 1. The gene also influences cytoskeletal dynamics through Rho family GTPases and can affect transcription via interactions with transcription factors 2. CTNND1 variants impair cell-to-cell interactions by altering E-cadherin localization and expression levels, potentially predisposing to early-onset gastric cancer through compromised epithelial integrity 3. The gene is frequently amplified in lung cancers (~3% of non-small cell cases), where elevated p120-catenin expression correlates with malignant phenotypes 4. Additionally, CTNND1 is implicated in orofacial cleft pathogenesis; its overexpression rescues morphogenesis defects in epithelial-derived structures 5. Recent genome-wide association studies identify CTNND1 as a potential causal candidate gene for obsessive-compulsive disorder 2. These findings underscore CTNND1's multifunctional role in developmental processes, epithelial homeostasis, and disease predisposition across diverse tissue contexts.

Sources cited
1
CTNND1 is crucial for trophoblast proliferation, specification during implantation, and acts as a component of Wnt signaling activated by cadherins
PMID: 39561119
2
CTNND1 germline variants alter E-cadherin levels and localization, affecting cell-to-cell interactions and predisposing to early-onset gastric cancer
PMID: 38796558
3
CTNND1 is amplified in ~3% of non-small cell lung cancers with strong protein immunostaining in tumors carrying amplification
PMID: 20556744
4
CTNND1 overexpression rescues morphogenesis defects in esrp1/2 mutant zebrafish and is identified as a key gene in human orofacial cleft
PMID: 39179789
5
CTNND1 is identified as a potential causal candidate gene for obsessive-compulsive disorder in genome-wide association study
PMID: 40360802
Disease Associationsβ“˜21
Blepharo-cheilo-odontic syndromeOpen Targets
0.73Strong
listeriosisOpen Targets
0.53Moderate
cleft lipOpen Targets
0.51Moderate
Familial exudative vitreoretinopathyOpen Targets
0.38Weak
cleft palateOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.37Weak
exudative vitreoretinopathyOpen Targets
0.37Weak
trigeminal nerve diseaseOpen Targets
0.22Weak
major depressive disorderOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.21Weak
non-small cell lung carcinomaOpen Targets
0.21Weak
gliomaOpen Targets
0.21Weak
oral squamous cell carcinomaOpen Targets
0.21Weak
melanomaOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.20Weak
esophageal squamous cell carcinomaOpen Targets
0.20Weak
acute myeloid leukemiaOpen Targets
0.20Weak
pancreatic carcinomaOpen Targets
0.20Weak
breast carcinomaOpen Targets
0.20Weak
open-angle glaucomaOpen Targets
0.20Weak
Blepharocheilodontic syndrome 2UniProt
Pathogenic Variants37
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)Pathogenic
Blepharocheilodontic syndrome 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)Pathogenic
not provided|Blepharocheilodontic syndrome 2
β˜…β˜…β˜†β˜†2024β†’ Residue 461
NM_001085458.2(CTNND1):c.2479C>T (p.Gln827Ter)Pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2025β†’ Residue 827
NM_001085458.2(CTNND1):c.638del (p.Tyr213fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 213
NM_001085458.2(CTNND1):c.718del (p.Arg240fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 240
NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 363
NM_001085458.2(CTNND1):c.2720del (p.Pro907fs)Pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2025β†’ Residue 907
NM_001085458.2(CTNND1):c.1350_1351del (p.Cys450_Asp451delinsTer)Likely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2024β†’ Residue 450
NM_001085458.2(CTNND1):c.2638+2T>GPathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2024
NM_001085458.2(CTNND1):c.2076_2077del (p.Ala693fs)Likely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2024β†’ Residue 693
NM_001085458.2(CTNND1):c.1960C>T (p.Arg654Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 654
NM_001085458.2(CTNND1):c.1722+2T>GLikely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2024
NM_001085458.2(CTNND1):c.2550+1G>APathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2023
NM_001085458.2(CTNND1):c.2737del (p.His913fs)Likely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 913
NM_001085458.2(CTNND1):c.1180T>C (p.Cys394Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 394
NM_001085458.2(CTNND1):c.606del (p.Pro203fs)Pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 203
NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)Pathogenic
Cleft lip with or without cleft palate|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 584
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)Likely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 169
NM_001085458.2(CTNND1):c.1451C>G (p.Ser484Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 484
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)Likely pathogenic
Blepharocheilodontic syndrome 2
β˜…β˜†β˜†β˜†2022β†’ Residue 745
View on ClinVar β†—
Related Genes
CDH3Protein interaction100%CDH5Protein interaction100%CDH8Protein interaction100%CDH11Protein interaction100%CDH15Protein interaction100%CDH17Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
88%
Heart
68%
Ovary
65%
Brain
58%
Bone Marrow
27%
Gene Interaction Network
Click a node to explore
CTNND1CDH3CDH5CDH8CDH11CDH15CDH17
PROTEIN STRUCTURE
Preparing viewer…
PDB3L6X Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.19Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.19]
RankingsWhere CTNND1 stands among ~20K protein-coding genes
  • #591of 20,598
    Most Researched459 Β· top 5%
  • #1,607of 5,498
    Most Pathogenic Variants37
  • #376of 17,882
    Most Constrained (LOEUF)0.19 Β· top 5%
Genes detectedCTNND1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A Comprehensive Human Gastric Cancer Organoid Biobank Captures Tumor Subtype Heterogeneity and Enables Therapeutic Screening.
PMID: 30344100
Cell Stem Cell Β· 2018
1.00
2
Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
PMID: 39179789
Commun Biol Β· 2024
0.90
3
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
PMID: 40360802
Nat Genet Β· 2025
0.80
4
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
PMID: 38712091
medRxiv Β· 2025
0.70
5
Whole-genome sequencing identifies novel genes for autism in Chinese trios.
PMID: 39126614
Sci China Life Sci Β· 2024
0.64